Journal
JOURNAL OF CHILD NEUROLOGY
Volume 23, Issue 7, Pages 802-806Publisher
SAGE PUBLICATIONS INC
DOI: 10.1177/0883073808314150
Keywords
chromosome 2q syndrome; 2q deletion syndrome; monosomy 2q; mental retardation; autism
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Terminal deletion of the long arm of chromosome 2 is a rare chromosomal disorder characterized by low birth weight, delayed somatic and mental development, craniofacial defects, short neck, heart and lung congenital defects, and autistic features. We report on a girl with 46,XX.ish del(2)(q37.1) de novo karyotype, mental retardation, dysmorphic features, gastrointestinal anomalies, and autistic traits and compare her clinical manifestations with patients with the same deletion previously described in literature.
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